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SLC20A2 solute carrier family 20 member 2 [ Homo sapiens (human) ]

Gene ID: 6575, updated on 27-Nov-2024

Summary

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Official Symbol
SLC20A2provided by HGNC
Official Full Name
solute carrier family 20 member 2provided by HGNC
Primary source
HGNC:HGNC:10947
See related
Ensembl:ENSG00000168575 MIM:158378; AllianceGenome:HGNC:10947
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIT2; RAM1; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR; PIT-2; Ram-1; GLVR-2
Summary
This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in thyroid (RPKM 23.3), heart (RPKM 12.0) and 24 other tissues See more
Orthologs
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Genomic context

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See SLC20A2 in Genome Data Viewer
Location:
8p11.21
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42416475..42541954, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42686790..42810126, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42273993..42397097, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr8:42248902-42249402 and GRCh37_chr8:42249403-42249903 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42258699-42258918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27311 Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene voltage dependent anion channel 3 Neighboring gene Sharpr-MPRA regulatory region 15103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42331955-42332466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42332467-42332978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333451-42333976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333977-42334500 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:42350219-42351086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42359656-42360855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19157 Neighboring gene Sharpr-MPRA regulatory region 9023 Neighboring gene NANOG hESC enhancer GRCh37_chr8:42409514-42410035 Neighboring gene small integral membrane protein 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27312 Neighboring gene Sharpr-MPRA regulatory region 2659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42516917-42517417 Neighboring gene uncharacterized LOC124900250 Neighboring gene uncharacterized LOC105379396 Neighboring gene cholinergic receptor nicotinic beta 3 subunit

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization. Taglia I, et al. J Cell Physiol, 2018 Mar. PMID 28722801
  2. Identification of SLC20A2 deletions in patients with primary familial brain calcification. Guo XX, et al. Clin Genet, 2019 Jul. PMID 30891739
  3. Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia. Brighina L, et al. Neurodegener Dis, 2014. PMID 25348593
  4. SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. Sekine SI, et al. Biochem Biophys Res Commun, 2019 Mar 5. PMID 30704756
  5. [Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. Zhu M, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2015 Feb. PMID 25636102

See all (84) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NOT linked in indiopathic basal ganglia calcinosis
    Title: Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q.
  2. Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
    Title: Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
  3. PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
    Title: PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
  4. PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis.
    Title: PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis.
  5. Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
    Title: Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis.
  6. Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
    Title: Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
  7. MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.
    Title: MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels.
  8. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
    Title: Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
  9. Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.
    Title: Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.
  10. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
    Title: Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Idiopathic basal ganglia calcification 1
MedGen: C4551624 OMIM: 213600 GeneReviews: Primary Familial Brain Calcification
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables sodium:phosphate symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sodium:phosphate symporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables sodium:phosphate symporter activity TAS
Traceable Author Statement
more info
  
enables virus receptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in phosphate ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in symbiont entry into host cell IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
sodium-dependent phosphate transporter 2
Names
epididymis secretory sperm binding protein
gibbon ape leukemia virus receptor 2
murine leukemia virus, amphotropic, receptor for
murine leukemia virus, amphotropic; receptor
solute carrier family 20 (phosphate transporter), member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032161.2 RefSeqGene

    Range
    45723..130479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257180.2 → NP_001244109.1  sodium-dependent phosphate transporter 2

    See identical proteins and their annotated locations for NP_001244109.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK291202, BC028600, H10927
    Consensus CDS
    CCDS6132.1
    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38, B2RBR4
    Related
    ENSP00000429754.1, ENST00000520262.6
    Conserved Domains (2) summary
    COG0306
    Location:7 → 224
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:491 → 637
    PHO4; Phosphate transporter family

  2. NM_001257181.2 → NP_001244110.1  sodium-dependent phosphate transporter 2

    See identical proteins and their annotated locations for NP_001244110.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK295952, AK314774, BC028600, H10927
    Consensus CDS
    CCDS6132.1
    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38, B2RBR4
    Related
    ENSP00000429712.1, ENST00000520179.5
    Conserved Domains (2) summary
    COG0306
    Location:7 → 224
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:491 → 637
    PHO4; Phosphate transporter family

  3. NM_006749.5 → NP_006740.1  sodium-dependent phosphate transporter 2

    See identical proteins and their annotated locations for NP_006740.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC028600, DA418477, H10927, L20852
    Consensus CDS
    CCDS6132.1
    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38, B2RBR4
    Related
    ENSP00000340465.3, ENST00000342228.7
    Conserved Domains (2) summary
    COG0306
    Location:7 → 224
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:491 → 637
    PHO4; Phosphate transporter family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    42416475..42541954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447237.2 → XP_024303005.1  sodium-dependent phosphate transporter 2 isoform X2

    UniProtKB/TrEMBL
    B2RBR4
    Conserved Domains (1) summary
    pfam01384
    Location:436 → 590
    PHO4; Phosphate transporter family

  2. XM_017013748.2 → XP_016869237.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38, B2RBR4
    Conserved Domains (2) summary
    COG0306
    Location:7 → 224
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:491 → 637
    PHO4; Phosphate transporter family

  3. XM_006716390.5 → XP_006716453.1  sodium-dependent phosphate transporter 2 isoform X2

    UniProtKB/TrEMBL
    B2RBR4
    Conserved Domains (1) summary
    pfam01384
    Location:436 → 590
    PHO4; Phosphate transporter family

  4. XM_005273613.4 → XP_005273670.1  sodium-dependent phosphate transporter 2 isoform X1

    See identical proteins and their annotated locations for XP_005273670.1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38, B2RBR4
    Related
    ENSP00000430462.2, ENST00000518384.2
    Conserved Domains (2) summary
    COG0306
    Location:7 → 224
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:491 → 637
    PHO4; Phosphate transporter family

  5. XM_024447235.2 → XP_024303003.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38, B2RBR4
    Conserved Domains (2) summary
    COG0306
    Location:7 → 224
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:491 → 637
    PHO4; Phosphate transporter family

  6. XM_047422121.1 → XP_047278077.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  7. XM_047422124.1 → XP_047278080.1  sodium-dependent phosphate transporter 2 isoform X2

  8. XM_047422122.1 → XP_047278078.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38
    Related
    ENSP00000430166.2, ENST00000518717.2

  9. XM_047422123.1 → XP_047278079.1  sodium-dependent phosphate transporter 2 isoform X2

  10. XM_024447236.2 → XP_024303004.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38, B2RBR4
    Conserved Domains (2) summary
    COG0306
    Location:7 → 224
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:491 → 637
    PHO4; Phosphate transporter family

  11. XM_017013749.3 → XP_016869238.1  sodium-dependent phosphate transporter 2 isoform X2

    UniProtKB/TrEMBL
    B2RBR4
    Conserved Domains (1) summary
    pfam01384
    Location:436 → 590
    PHO4; Phosphate transporter family

  12. XM_047422120.1 → XP_047278076.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  13. XM_017013752.3 → XP_016869241.1  sodium-dependent phosphate transporter 2 isoform X3

    UniProtKB/TrEMBL
    B4DJ71
    Conserved Domains (2) summary
    COG0306
    Location:349 → 507
    PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]
    pfam01384
    Location:401 → 499
    PHO4; Phosphate transporter family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    42686790..42810126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361045.1 → XP_054217020.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  2. XM_054361055.1 → XP_054217030.1  sodium-dependent phosphate transporter 2 isoform X2

  3. XM_054361044.1 → XP_054217019.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  4. XM_054361051.1 → XP_054217026.1  sodium-dependent phosphate transporter 2 isoform X2

  5. XM_054361046.1 → XP_054217021.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  6. XM_054361054.1 → XP_054217029.1  sodium-dependent phosphate transporter 2 isoform X2

  7. XM_054361050.1 → XP_054217025.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  8. XM_054361053.1 → XP_054217028.1  sodium-dependent phosphate transporter 2 isoform X2

  9. XM_054361048.1 → XP_054217023.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  10. XM_054361047.1 → XP_054217022.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  11. XM_054361052.1 → XP_054217027.1  sodium-dependent phosphate transporter 2 isoform X2

  12. XM_054361049.1 → XP_054217024.1  sodium-dependent phosphate transporter 2 isoform X1

    UniProtKB/Swiss-Prot
    Q08357
    UniProtKB/TrEMBL
    A0A384MR38

  13. XM_054361056.1 → XP_054217031.1  sodium-dependent phosphate transporter 2 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08357.1 GenPept UniProtKB/Swiss-Prot:Q08357

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